{"id":"W2135508945","doi":"10.1016/j.ijcard.2015.10.216","title":"Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease","year":2015,"lang":"en","type":"letter","venue":"International Journal of Cardiology","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children; University Health Network; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research","keywords":"Great arteries; Medicine; Genetic testing; Heart disease; OMIM : Online Mendelian Inheritance in Man; Copy-number variation; Genetic counseling; Microarray; Genetics; Pediatrics; Phenotype; Internal medicine; Gene; Genome; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005828728,0.0006051833,0.000791745,0.000679038,0.0007912792,0.0009318726,0.0008157149,0.01025076,0.001873665],"category_scores_gemma":[0.007322379,0.0003165214,0.0005298607,0.000365581,0.001262283,0.001293546,0.0005161178,0.006098987,0.0007288554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006700429,"about_ca_system_score_gemma":0.0003951728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00105757,"about_ca_topic_score_gemma":0.001377063,"domain_scores_codex":[0.9994352,0.000139455,0.00009203451,0.0001209872,0.000118296,0.00009400416],"domain_scores_gemma":[0.9965838,0.002335077,0.0002872358,0.0001311982,0.0002898654,0.0003727477],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001024547,0.00005377209,0.01686601,0.00007198561,0.00002663542,0.9242997,0.0003131508,0.0003250025,0.001860344,0.002037925,0.04241351,0.01162945],"study_design_scores_gemma":[0.000043963,0.0001298958,0.01131284,0.0001309336,0.00004239508,0.9569823,0.000372934,0.001871106,0.0008464233,0.00563722,0.02258264,0.00004733801],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.2027686,0.007143157,0.006069886,0.7373555,0.01981983,0.00009349552,0.0004291413,0.0003660516,0.02595433],"genre_scores_gemma":[0.7603133,0.005490685,0.007072409,0.144701,0.07326207,0.00004451057,0.0001529874,0.0001027902,0.008860232],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.01025076,"threshold_uncertainty_score":0.006268084,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01230130989113029,"score_gpt":0.3076408067335961,"score_spread":0.2953394968424659,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}